A30A (p.Ala30Ala) variant of SOX2 (Transcription factor SOX-2)
A30A (p.Ala30Ala) in SOX2 (Transcription factor SOX-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- rs745913995
- gnomAD 3-181712450-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 13.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.508
- Literature evidence available